Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.N3_A5delFs

EMD

912 papers

RefSeq Summary

Emerin is a serine-rich nuclear membrane protein and a member of the nuclear lamina-associated protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular dystrophy is ...

Pfam Domains

LEMaa 3–49UCSCLEM domain

Gene Aliases

HGNC Name

emerin

HGNC Alias Symbols

STA; LEMD5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000117.3
p.N3_A5delFs
c.7_14del8
Surrounding Variants
1 paper
NM_000117.3
p.D2A
c.5A>C
1 paper
NM_000117.3
p.D2E
c.6C>A
1 paper
NM_000117.3
p.D2E
c.6C>G
1 paper
NM_000117.3
p.N3_L12del10
c.7_35del30
5 papers
NM_000117.3
p.M1I
c.3G>A
3 papers
NM_000117.3
p.M1I
c.3G>C
2 papers
NM_000117.3
p.M1I
c.3G>T
3 papers
NM_000117.3
p.M1T
c.2T>C
2 papers
NM_000117.3
p.M1R
c.2T>G
1 paper
NM_000117.3
p.M1_Y4delFs
c.3_12del10
1 paper
NM_000117.3
p.M1insFs
c.2_3insT
12 papers
NM_000117.3
p.M1V
c.1A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."